A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34938



Internal ID12990974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51724663..52127682hg38UCSC Ensembl
Innerchr19:52227916..52630935hg19UCSC Ensembl
Innerchr19:56919728..57322747hg18UCSC Ensembl
Innerchr19:56919728..57322747hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38403020
hg19403020
hg18403020
hg17403020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv143e55
Supporting Variantsessv6990195, essv6978097, essv6986542, essv6986543
SamplesNA11832
Known GenesFPR1, FPR2, FPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF841
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34938
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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